Rare Disease Q&A - Page 16

Share to:
Can Primary Chronic Granulomatous Disease in Infants Be Fully Treated?

Primary Chronic Granulomatous Disease? Is it possible to achieve a complete cure for an infant with chronic granulomatous disease?


Dr. Jian Yingxiu Reply:
This condition is characterized by the inability of neutrophils to effectively kill certain microorganisms. Patients with this disorder can use prophylactic antibiotics and interferon gamma (IFN-γ) to reduce the risk of infection, but a complete cure relies on successful bone mar...

[Read More] Can Primary Chronic Granulomatous Disease in Infants Be Fully Treated?


Understanding Rare Brain Disorders: Symptoms and Diagnosis Challenges

Brain diseases My sister had a car accident before, but she was fine, so we didn't pay much attention to it. After a year, one day she suddenly started to react slowly, and then she couldn't recognize who you were or say your name. We took her to the hospital for examin...


Dr. Lai Xiangrong Reply:
Regarding your question, since we have not seen the patient, we cannot make a complete assessment of the EEG. However, the electrodes placed on the scalp can observe the electrical activity of the brain, which is the best auxiliary tool for diagnosing epilepsy, rather than for tr...

[Read More] Understanding Rare Brain Disorders: Symptoms and Diagnosis Challenges


Understanding Recurring Vaginal Infections: Seeking Answers and Solutions

Vaginal infection!!! I experience vaginal infections 1 to 2 times every month, and this has been ongoing for several years. Each infection is accompanied by white and yellow-green chunky discharge, and there is also itching in the vulvar area. This year, I had one instance of hav...


Dr. Lin Zhenru Reply:
White and yellow-green, clumpy discharge resembling cottage cheese, along with itching in the vulvar area, are common symptoms of a vaginal yeast infection. Vaginal yeast infections are quite prevalent gynecological infections, and many individuals experience recurrent infections...

[Read More] Understanding Recurring Vaginal Infections: Seeking Answers and Solutions


Understanding Scleroderma: Is It a Rare Disease and What to Watch For?

Inquiry about Scleroderma Is scleroderma considered a rare condition? What are the symptoms? What issues should be taken into consideration?


Dr. Lin Sixie Reply:
Scleroderma is a chronic connective tissue disease, characterized by skin hardening, with its etiology still unclear. The disease is marked by excessive proliferation of connective tissue, leading to fibrosis in various parts of the body. This change most commonly occurs in the s...

[Read More] Understanding Scleroderma: Is It a Rare Disease and What to Watch For?


Understanding Compulsive Behavior in Students: A Case Study

Could you please clarify the question regarding the students in the class? I would like to ask you about a student of mine who frequently steals from other students. He mentioned that he steals items from girls he likes almost every day, and he doesn't just like one girl at ...


Dr. Huang Litong Reply:
This student does not have obsessive-compulsive disorder or attention deficit hyperactivity disorder; the issues may stem from family or school adaptation problems. It would be advisable to seek guidance from the school counselor.

[Read More] Understanding Compulsive Behavior in Students: A Case Study


Pregnancy Concerns After Taking Nometin: Risks and Considerations

Taking Normetherone during pregnancy? Hello doctor, my last menstrual cycle started on July 23. I began taking Norplant from August 1 to August 14. However, I later found out that I am pregnant. Can the fetus be kept? I feel very conflicted; I don't want to let go, but if I ...


Dr. Lin Zhenru Reply:
Hello, in general, medications during the early stages of pregnancy can indeed have potential effects. The most important step is to visit an obstetrician to confirm the actual gestational age of your pregnancy. If your gestational age aligns with your menstrual cycle, and you to...

[Read More] Pregnancy Concerns After Taking Nometin: Risks and Considerations


Understanding Skin Whorl Syndrome: Insights and Treatment Options

Special outpatient clinic for skin vortex disease..? Skin vortex disease special outpatient clinic... I was treated for it when I was in the second grade of elementary school (at Chiayi Christian Hospital), and it has been nearly 17 years since then. The doctor at that time menti...


Dr. Jian Yingxiu Reply:
Please inquire with dermatology or surgery departments about the latest developments. Thank you.

[Read More] Understanding Skin Whorl Syndrome: Insights and Treatment Options


Concerns About Developmental Delays in a One-Year-Old Child

Please consult about developmental issues in a 1-year-old child? My son just turned one year old. He can roll over but doesn't sit up well and needs support to walk slowly. His left hand is often clenched into a fist with the palm facing backward and the arm extended straigh...


Dr. Lin Guanglin Reply:
One year old, can roll over but has difficulty sitting up, needs to be evaluated.

[Read More] Concerns About Developmental Delays in a One-Year-Old Child


Understanding Uvaf Syndrome: Key Considerations for Caregivers and Educators

Uveitis syndrome is a rare disease? As a class advisor, I would like to inquire about a student in my class who has a certain medical condition. Aside from the visible differences compared to their peers, what precautions or considerations should we keep in mind for this child on...


Dr. Lin Xuanpei Reply:
The disease in question is Marfan syndrome. Therefore, the response is as follows: Children with Marfan syndrome can generally engage in daily activities and routines similar to their peers at school, but they should avoid vigorous exercise, particularly competitive activities, a...

[Read More] Understanding Uvaf Syndrome: Key Considerations for Caregivers and Educators


Understanding Methylmalonic Acidemia: Causes, Symptoms, and Genetic Factors

Methylmalonic acidemia Doctor: Hello, I would like to ask about this condition. My good friend, she and her husband had their second child, who was diagnosed with this rare disease just one month after birth. The doctor mentioned that this rare disease is genetic, but neither of ...


Dr. Jian Yingxiu Reply:
This is an autosomal recessive genetic disorder, where both parents are carriers and do not exhibit symptoms. Each child has a 1 in 4 chance of being affected. If a previous child has been born with this type of disorder, special prenatal testing can be considered to check for th...

[Read More] Understanding Methylmalonic Acidemia: Causes, Symptoms, and Genetic Factors


Understanding Hair Loss During Dialysis: Causes and Solutions

Hemodialysis Hello Professor Lin, I would like to ask you about something. Recently, for some unknown reason, I have been experiencing significant hair loss, especially during the 4-hour dialysis sessions when I lose a particularly large amount of hair. After washing the bed line...


Dr. Lin Qingyuan Reply:
Hello: I need to see the patient and perform some examinations to determine the diagnosis.

[Read More] Understanding Hair Loss During Dialysis: Causes and Solutions


Understanding Tyrosinemia in Newborns: Treatment Options and Surgery

Tyrosinemia I would like to ask if there are any treatment options for newborns with tyrosinemia, and whether surgery is necessary for recovery.


Dr. Jian Yingxiu Reply:
The newborn screening method your baby underwent utilizes "Tandem Mass Spectrometry" to analyze the concentrations of various amino acids, organic acids, and fatty acid metabolites in dried blood spot specimens. If the concentration of any detected substance exceeds the...

[Read More] Understanding Tyrosinemia in Newborns: Treatment Options and Surgery


Understanding Rare Metabolic Disorders in Infants: A Guide for Parents

Metabolic disorder in men? Hello, Dr. Jian. My baby has undergone tandem mass spectrometry analysis for metabolic disorders after birth, and the results indicate a suspected positive for argininemia, hyperammonemia/hyperornithinemia/homocitrullinuria (HHH). This is already the re...


Dr. Jian Yingxiu Reply:
The newborn screening method your baby underwent utilizes "Tandem Mass Spectrometry" to analyze the concentrations of various amino acids, organic acids, and fatty acid metabolites in dried blood spot samples. If the concentration of any detected substance exceeds the s...

[Read More] Understanding Rare Metabolic Disorders in Infants: A Guide for Parents


Managing Neuropathic Pain in Multiple Sclerosis: Treatment Options and Insights

Neuralgia Hello Doctor: I am a patient with multiple sclerosis, and one of the sequelae of my condition is neuropathic pain, which is very difficult to endure. The doctor has prescribed me antidepressants and anticonvulsants, and I have been taking them for a while now; however, ...


Dr. Yang Kunde Reply:
The pain complications of multiple sclerosis are quite diverse, especially since there are fewer patients of this type in our country. The experience in managing neuropathic pain sequelae after onset is less than that of Western patients. It is essential to collaborate patiently ...

[Read More] Managing Neuropathic Pain in Multiple Sclerosis: Treatment Options and Insights


Understanding Weakness in Elderly: Causes and Solutions for Mobility Issues

Elderly individuals - weakness in the limbs? An elderly man in his eighties is experiencing weakness in his limbs, unsteady walking (with swaying), and occasionally knocking things over. His medical history includes: 1. Hypertension, heart disease, and diabetes. 2. In May of this...


Dr. Lai Xiangrong Reply:
Your father's limb issues are likely due to: 1. Diabetic polyneuropathy -> which can cause limb weakness; 2. Heart failure -> which can also lead to limb weakness; 3. Cerebellar dysfunction -> which can result in unsteady gait and difficulty with fine motor skills. ...

[Read More] Understanding Weakness in Elderly: Causes and Solutions for Mobility Issues


Understanding Insulinoma: A Rare Disease and Its Management Challenges

Insulinoma Is pancreatic neuroendocrine tumor considered a rare disease? Are there other names for it within the category of rare diseases? Recently, our institution admitted a patient with this diagnosis. Currently, the patient's blood glucose levels are maintained between ...


Dr. Jian Yingxiu Reply:
Nesidioblastosis, a type of pancreatic neuroendocrine tumor, can be effectively managed through surgical intervention in some patients to alleviate hypoglycemic symptoms. For those who are not surgical candidates, pharmacological treatment may be considered. Currently, we are usi...

[Read More] Understanding Insulinoma: A Rare Disease and Its Management Challenges


Understanding Granulocyte Sarcoma: Symptoms, Treatment, and Recurrence Risks

Langerhans Cell Histiocytosis Hello, doctor: My brother previously sought medical attention for ulceration under his armpit, and the doctor diagnosed him with "Langerhans Cell Histiocytosis." The doctor mentioned that this is a rare disease with very few actual cases. H...


Dr. Yang Kunde Reply:
"Granulocyte Sarcoma" is classified into three categories: ranging from mild cases involving the skin or lymph nodes to severe cases with malignant fever and malignancies. Your brother's condition may fall under the mild category, which has a lower recurrence rate!...

[Read More] Understanding Granulocyte Sarcoma: Symptoms, Treatment, and Recurrence Risks


Understanding Whirling Disease: Symptoms and Insights on This Rare Condition

Vortex syndrome What is vortex syndrome? What are its symptoms?


Dr. Jian Yingxiu Reply:
Based on your description, it is difficult to determine what your issue is. Please provide more information, such as the English name of the condition or the symptoms you are experiencing. Thank you.

[Read More] Understanding Whirling Disease: Symptoms and Insights on This Rare Condition


Understanding Galactosemia: What to Do After a Positive Screening Test

Galactosemia Doctor: If my child has a presumptive positive screening for galactosemia and needs to undergo a third confirmatory test, does that mean my child definitely has galactosemia? I'm really worried. Isn't it said that babies will become lethargic after drinking...


Dr. Jian Yingxiu Reply:
If the screening for galactosemia shows a false positive, a third retest will be necessary, so please wait for the screening results. If the galactose blood levels are high enough to pose a risk, you will be directly notified to go to the hospital for further examination. Galacto...

[Read More] Understanding Galactosemia: What to Do After a Positive Screening Test


Caring for Patients with Mitochondrial Myopathy: Diet and Treatment Tips

How should patients with mitochondrial myopathy be cared for? Hello, I would like to ask what dietary considerations should be taken into account for patients with mitochondrial myopathy? Are there any specific nutritional supplements that should be included? Additionally, how sh...


Dr. Chen Shunsheng Reply:
First, let's confirm the diagnosis of mitochondrial myopathy!

[Read More] Caring for Patients with Mitochondrial Myopathy: Diet and Treatment Tips




Rare Disease FAQ

Brittle Bone Disease Chromosomes
Congenital Metabolic Disorders Disease Name
Epilepsy G6Pd Deficiency
Hair Height
Ichthyosis Kawasaki Disease
Muscular Diseases Neurological Diseases
Neurology Newborn Screening
Osteogenesis Imperfecta Other
Rare Diseases Rare Disease Treatment
Tourette Syndrome Tumor
Whole Exome Sequencing Wilson'S Disease